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[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].

作者信息

Mayer U, Grosse K P

出版信息

Klin Monbl Augenheilkd. 1982 Apr;180(4):290-3. doi: 10.1055/s-2008-1055069.

DOI:10.1055/s-2008-1055069
PMID:6806523
Abstract

Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve. The parents of the children presented with minor symptoms such as dysplasia iridis, arcus lipoides and hyperlipemic vascular signs in the retina. Differential diagnostic considerations suggest a hereditary disease, the pathogenesis of which is not completely clear.

摘要

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